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Biomedical subjects

J Friedel

Publications and source records attributed to J Friedel.

At least 19 recordsLinked to original sources
PubMed2002

Clinical and genetic studies of Birt-Hogg-Dubé syndrome.

Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant cancer syndrome characterised by benign skin tumours, renal tumours, and spontaneous pneumothorax. The gene has been mapped to chromosome 17p11.2 and recently identified, expressing a novel protein called folliculin. We report the clinical and genetic studies of four sporadic BHD cases and four families with a total of 23 affected subjects. Haplotype analysis of these families using BHD linked markers showed they did not share the same affected alleles, excluding common ancestry. Mutation analysis of the BHD gene identified two germline mutations on exon 11 (c.1733insC and c.1733delC) in three of four families as well as two of four sporadic cases. A novel somatic mutation, c.1732delTCinsAC, was detected in a BHD related chromophobe renal carcinoma. Our results confirmed the (C)8 tract in exon 11 as a mutational hot spot in BHD and should always be considered for future genetic testing. Our observation also indicated that the second hit (of Knudson's two hit theory) in some BHD related tumours is in the form of somatic mutation rather than LOH. In a large French family in which eight affected subjects carry the c.1733delC mutation, a phenocopy who has multiple episodes of spontaneous pneumothorax was identified. A total of five mutation carriers (aged between 37 to 66) did not have any evidence of BHD features, suggesting either reduced penetrance or late age of onset of the disease. In addition, six out of eight affected subjects who have positive germline mutation have confirmed neoplastic colonic polyps, indicating that colorectal neoplasia is an associated feature of BHD in some families. Our studies have observed several interesting genetic features in BHD: (1) the poly (C) tract in exon 11 as a mutational hot spot; (2) the existence of phenocopy; (3) reduced penetrance or late age of onset of disease; (4) association with colorectal neoplasia in some families; and (5) somatic mutation instead of LOH as the second hit in BHD tumours.

Adult↗
PubMed2001

[Adult cutaneous periarteritis nodosa and dental infections. Role of streptococci].

INTRODUCTION: Periarteritis nodosa can be associated with streptococcal infections in children. We report two cases of adult cutaneous periarteritis nodosa that disappeared after the treatment of dental infection. EXEGESIS: A 23-year-old woman presented with necrotic ulceration on the legs for 6 months, with a histology of necrotizing vasculitis. Many sites of dental infections could be noted. Immunological data were negative and so were serologies of hepatitis. Corticosteroid therapy failed. The teeth removal with antibiotic therapy allowed the disappearance of cutaneous lesions in a month. A 26-year-old woman was hospitalized for growing thin, fever, diffuse arthralgia and myalgia and cutaneous nodules on the legs with necrotizing vasculitis on dermal vessels at histological analysis. The biology showed no pecularity. Radiography of the teeth showed many dental infection sites. The removal of six teeth with antibiotic therapy led to the disappearance of vasculitis in 6 weeks. CONCLUSION: The search for an infectious problem is important when vasculitis is diagnosed, in particular periarteritis nodosa. The treatment of dental infection could occasionally mean avoiding immunosuppressive therapy in certain cases.

Adrenal Cortex Hormones↗
PubMed1998

[Sclerosing tufted angioma. Apropos of 4 cases involving lower limbs].

BACKGROUND: Tufted angioma belongs to the family of vascular skin proliferations. Clustered capillaries is the characteristic histological feature. Classically, tufted angioma is an acquired disease observed in children or young adults with lesions predominating on the neck, the shoulders and the upper trunk. CASE REPORTS: Four children were seen for flat skin lesions which were either initially or secondarily erythematous. The lesions were observed at birth or within the first weeks of life. In all 4 cases, the lesions progressed by infiltration, leading to sclerous plaques within a few weeks. The hip area was involved in case n(o) 2 and the thigh in the other cases. Pathology reported tufted angioma. A repeated biopsy 4 years after the first biopsy demonstrated the progressive nature of the fibrosis in case n(o) 2. Magnetic resonance imaging, performed in 3 of the 4 cases, demonstrated deep penetration of the vascular proliferation. The lesions were in contact with bony structures in case n(o) 2, reached the hypodermis in case n(o) 3 and infiltrated between the adducter muscles in case n(o) 4. DISCUSSION: Among tufted angiomas, there is a clinical variant characterized by very early discovery (congenital or within the first months of life), preferential localization on the lower limbs and progression to sclerosis. Although non-specific, hypersudation and lanuginous hypertrichosis are also highly suggestive signs. The main clinical and histological differential diagnosis is angio-eccrine hamartoma and, to a lesser degree, Kaposi hemangioendothelioma which does not predominate on the lower limbs. This particular clinical presentation of tufted angioma should lead to wide and sufficiently deep biopsy to allow precise diagnosis prior to initiating therapy. The possibility of spontaneous involution would allow abstention with regular surveillance to detect reactivation and progression or functional impairment. Such unfavorable progression has lead certain authors to propose high-dose systemic corticosteroid therapy or alpha-interferon.

Biopsy↗
PubMed1994

Central projection of auditory receptors in the prothoracic ganglion of the buschcricket Psorodonotus illyricus (tettigoniidae): computer-aided analysis of the end branch pattern.

The projection patterns of morphologically and functionally identified auditory and auditory-vibratory receptor cells of receptor organs (the crista acustica and the intermediate organ) in the foreleg of the tettigoniid Psorodonotus illyricus, were investigated with combined recording and staining techniques, and subsequent histological examination and morphometric measurements. With the application of a computer program (AutoCAD), three-dimensional reconstructions of the axon end branches of receptor cells within the neuropile of the anterior Ring Tract (aRT) were made, in order to determine, the entire shape of each, the pattern and density of the end branches, and the positions of the target areas within the auditory neuropile. Clear differences for different functional types of receptors were found.

Animals↗
PubMed1993

[Pseudolymphoma caused by cholesterol embolism].

We report the case of a 60-year old man who, during four years following surgical repair of an inguinal hernia (with transient antithrombotic therapy), suffered from an atypical inflammatory nodule on the dorsum of the left foot with an erythematous plaque on the first intermetatarsal space, together with an inflammatory plaque on the right fifth finger and hairless plaques on both wrists. An ultimate biopsy of the nodule made it possible to discover, unexpectedly, two shadows of cholesterol crystals in a vascular lumen and inside the cytoplasm of a giant multinucleate cell found on a single histological slice and at the deepest part of the fragment. The inflammatory lesions disappeared under a 250 mg/day aspirin treatment. We emphasize the uncommon clinical and pathological pseudo-lymphomatous features of this case and regard our description as original in view of the chronicity of the embolising process.

Aspirin↗
PubMed1989

Rosacea: disturbed defense against brain overheating.

Tympanic (Tty), esophageal (Tes), forehead, and hand skin temperatures, as well as the forehead evaporation rate were recorded in six men (four suffering from rosacea and two healthy controls) before, during, and after 1 h of warm bath (38 degrees-39 degrees C). During the last 30 min of the bath, the subject's face was vigorously fanned (14 m/s). Blood flow was explored with ultrasonic Doppler in the emissary veins of the cranium during normothermia before entering the bath, and during hyperthermia just after leaving it. Under normothermic conditions, Tty was higher than Tes in all subjects. In three patients, no blood flow could be detected in the ophthalmic emissary veins whereas in the fourth patient as well as in both control subjects, blood flowed from the intracranium to the face. During hyperthermia, face fanning decreased Tty by 0.25 degrees +/- 0.05 degrees C (+/- SEM) below Tes in the control subjects whereas in all patients Tty remained warmer than Tes by 0.1 degrees C. Doppler recordings showed a rapid inward blood flow from the skin to the brain in the controls during hyperthermia. In patients, however, there was no change from normothermia in the blood flow patterns of vena angularis oculi. Their forehead temperature was permanently higher than in control subjects. Venous blood flow from the skin to the brain appears to be suppressed in rosacea, thus inhibiting selective brain cooling in hyperthermic conditions. The importance of this mechanism in the pathogenesis of rosacea and its significance as a means of investigation are discussed.

Adult↗
PubMed1989

[Phototrichogram. Adaptation, standardization and applications].

Clinical investigation and hair plucking performed during trichogram, a traumatic technique for obtaining a hair formula, are the present means of evaluation in patients with alopecia or complaining of loss of hair. These means do not provide quantitative data valuable enough for a possible appreciation of the severity of hair loss, let alone for a reliable evaluation in therapeutical trials. Phototrichogram, a technique proposed by Saitoh (1970), Fiquet and Courtois (1979) and developed by Bouhanna (1982-1983), brings more satisfactory qualitative and quantitative means of studying hair growth and pilar cycles. Its standardisation had yet to be obtained so as to give results comparable from one study to another and reproducible in any given patient. We propose here a standardised optical equipment and particularly recommend a rigid frame allowing a fixed distance from the skin to the lens, and a superimposed glass window with millimetric graduations; the 0.50 square centimeter skin area to be analysed may easily be marked off by an 0.2 mm wide black microtatoo. This personal technical adaptation gives an easily obtainable definition of five quantitative parameters analysing the hair on a given area of the scalp: density of implantation, telogen percentage, growth rate, mean anagen diameter and percentage of fine hair less than 40 mu in diameter. In the normal male adult our measurements gave the following results on the vertex: density 204 +/- 10 hair per square centimeter, telogen percentage 17.8 +/- 2.8 p. 100, growth rate 0.35 +/- 0.03 mm p. day, mean anagen diameter 76 +/- 5 mu, percentage of fine hair 9.2 +/- 1.8 p. 100.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗